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rdf:type |
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lifeskim:mentions |
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pubmed:dateCreated |
2010-12-8
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pubmed:abstractText |
One approach to identify genes that contribute to common complex ocular disorders such as primary open angle glaucoma (POAG) is to study the genetic determinates of endophenotypes that are defined by underlying pre-disposing heritable quantitative traits such as central corneal thickness (CCT). Collagen VIII is a major component of Descemet's membrane and studies in mice have indicated that targeted inactivation of the genes encoding the collagen type 8 alpha1 (Col8a1) and collagen type 8 alpha2 (Col8a2) subunits (COL8A1 and COL8A2) results in thinning of the corneal stroma and of Descemet's membrane. The purpose of this study is to evaluate COL8A1 and COL8A2 as candidate genes for thin CCT in human POAG patients.
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pubmed:grant |
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:issn |
1090-0535
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pubmed:author |
pubmed-author:AbdrabouWW,
pubmed-author:Del BonoEE,
pubmed-author:DesronvilTT,
pubmed-author:GaoC GCG,
pubmed-author:HainesJ LJL,
pubmed-author:JonesRR,
pubmed-author:Logan-WyattDD,
pubmed-author:OlivierMM,
pubmed-author:PasqualeL RLR,
pubmed-author:TaheriSS,
pubmed-author:TrianaMM,
pubmed-author:WiggsJ LJL
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pubmed:issnType |
Electronic
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pubmed:volume |
16
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
2185-91
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pubmed:meshHeading |
pubmed-meshheading:21139683-Aged,
pubmed-meshheading:21139683-Amino Acid Sequence,
pubmed-meshheading:21139683-Amino Acid Substitution,
pubmed-meshheading:21139683-Animals,
pubmed-meshheading:21139683-Base Sequence,
pubmed-meshheading:21139683-Collagen Type VIII,
pubmed-meshheading:21139683-Conserved Sequence,
pubmed-meshheading:21139683-Cornea,
pubmed-meshheading:21139683-European Continental Ancestry Group,
pubmed-meshheading:21139683-Evolution, Molecular,
pubmed-meshheading:21139683-Female,
pubmed-meshheading:21139683-Glaucoma, Open-Angle,
pubmed-meshheading:21139683-Heterozygote,
pubmed-meshheading:21139683-Humans,
pubmed-meshheading:21139683-Male,
pubmed-meshheading:21139683-Mice,
pubmed-meshheading:21139683-Molecular Sequence Data,
pubmed-meshheading:21139683-Mutation, Missense,
pubmed-meshheading:21139683-Phenotype,
pubmed-meshheading:21139683-Polymorphism, Single Nucleotide,
pubmed-meshheading:21139683-Protein Structure, Tertiary,
pubmed-meshheading:21139683-Quantitative Trait Loci
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pubmed:year |
2010
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pubmed:articleTitle |
Distribution of COL8A2 and COL8A1 gene variants in Caucasian primary open angle glaucoma patients with thin central corneal thickness.
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pubmed:affiliation |
Department of Ophthalmology, Harvard Medical School and Massachusetts Eye and Ear Infirmary, Boston, MA 02114, USA.
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't,
Research Support, N.I.H., Extramural
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